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Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges.

Jenny Shunyakova¹, Margaret Reynolds², Amal Taylor²

¹Rocky Mountain Lions Eye Institute, University of Colorado School of Medicine, Aurora, CO, United States.

Frontiers in Ophthalmology

|April 9, 2025

Summary

This summary is machine-generated.

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ROSAH syndrome, a genetic disorder affecting vision, is caused by an ALPK1 gene mutation. While treatments can manage ocular inflammation and edema, they may not halt progressive retinal degeneration.

Area of Science:

Ophthalmology
Genetics
Rare Diseases

Background:

ROSAH syndrome is an autosomal dominant disorder linked to alpha kinase 1 (ALPK1) gene mutations.
This study examines three relatives with ROSAH syndrome, detailing their clinical presentation and treatment responses.

Observation:

A 16-year-old male and his family members exhibited symptoms including optic disc edema, macular edema, retinal degeneration, and uveitis.
Genetic analysis revealed a shared heterozygous ALPK1 gene mutation (c.710C>T) confirming ROSAH syndrome.

Findings:

Ophthalmic manifestations included optic nerve edema, panuveitis, glaucoma, and extensive cone and rod dysfunction.
The proband's macular edema responded to intravitreal dexamethasone and systemic tocilizumab.
Despite immunosuppressive therapy, progressive retinal degeneration was observed.

Keywords:

ALPK1 ROSAH optic disc edema retinal degeneration uveitis

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Implications:

Diagnosing ROSAH syndrome involves recognizing characteristic ocular signs and confirming with ALPK1 gene sequencing.
Current treatments may alleviate inflammation and edema but do not prevent vision loss due to retinal degeneration.